LP208594-4
Chromosome region 17p11.2
Active
Description
The retinoic acid induced 1 (RAI1) gene, located in the 17p11.2 region, is the causative gene for Smith-Magenis syndrome (SMS) and Potocki-Lupski syndrome (PTLS). SMS and PTLS are characterized by multiple congenital anomalies and mental retardation resulting from either a deletion (SMS) or duplication (PTLS) of the 17p11.2 chromosome region. The disorders are diagnosed using a combination of clinically recognized phenotypes and molecular cytogenetic analyses, including fluorescent in situ hybridization (FISH). Clinically, PTLS presents as a milder syndrome than SMS. Source: Regenstrief LOINC, PMID: 18373405
Basic Part Properties
- Part Name
- Chromosome region 17p11.2
- Part Display Name
- Chromosome region 17p11.2
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2016-03-29
- Construct for LOINC Short Name
- Chr 17p11.2
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | 染色体区域 17p11.2 Synonyms: 染色体区域（染色体部位、 |
| es-ES | Spanish (Spain) | Región cromosómica 17p11.2 |
| it-IT | Italian (Italy) | Regione cromosomica 17p11.2 |
| fr-FR | French (France) | Chromosome région 17p11.2 |
| nl-NL | Dutch (Netherlands) | chromosoomgebied 17p11.2 |
| pl-PL | Polish (Poland) | Region chromosomowy 17p11.2 |
| el-GR | Greek (Greece) | Χρωμοσωμική περιοχή 17p11.2 Synonyms: Χρωμοσωμική περιοχή 17p11.2 |
LOINC Copyright
Copyright © Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://